MBNL2 (muscleblind like splicing regulator 2)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 10150 |
| Gene name | Muscleblind like splicing regulator 2 |
| Gene symbol | MBNL2 |
| Synonyms (NCBI Gene) |
MBLLMBLL39PRO2032
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| Chromosome | 13 |
| Chromosome location | 13q32.1 |
| Summary | This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to |
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miRNA
miRNA information provided by mirtarbase database.
432
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q5VZF2 | |||||||||||||||||||||||||
| Protein name | Muscleblind-like protein 2 (Muscleblind-like protein 1) (Muscleblind-like protein-like) (Muscleblind-like protein-like 39) | |||||||||||||||||||||||||
| Protein function | Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclus | |||||||||||||||||||||||||
| PDB | 2E5S , 2RPP | |||||||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:11929853}. | |||||||||||||||||||||||||
| Sequence |
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| Sequence length | 373 | |||||||||||||||||||||||||
| Interactions | View interactions | |||||||||||||||||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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